rs121918334

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121918334(C;T)

Make rs121918334(T;T)

Reference

GRCh37 37.1/132

Chromosome

11

Position

792429

Gene

SLC25A22

is a	snp
is	mentioned by
dbSNP	rs121918334
dbSNP (classic)	rs121918334
ClinGen	rs121918334
ebi	rs121918334
HLI	rs121918334
Exac	rs121918334
Gnomad	rs121918334
Varsome	rs121918334
LitVar	rs121918334
Map	rs121918334
PheGenI	rs121918334
Biobank	rs121918334
1000 genomes	rs121918334
hgdp	rs121918334
ensembl	rs121918334
geneview	rs121918334
scholar	rs121918334
google	rs121918334
pharmgkb	rs121918334
gwascentral	rs121918334
openSNP	rs121918334
23andMe	rs121918334
SNPshot	rs121918334
SNPdbe	rs121918334
MSV3d	rs121918334
GWAS Ctlg	rs121918334

Max Magnitude

0

OMIM	609302
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918334(T;T)
Alt	rs121918334(T;T)
Reference	Rs121918334(C;C)
Significance	Pathogenic
Disease	Early myoclonic encephalopathy
Variation	info
Gene	SLC25A22
CLNDBN	Early myoclonic encephalopathy
Reversed	1
HGVS	NC_000011.9:g.792429G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001847.3,